Incidental Mutation 'IGL00338:Slc22a26'
ID |
3260 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc22a26
|
Ensembl Gene |
ENSMUSG00000053303 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 26 |
Synonyms |
BC014805 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL00338
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7758406-7780032 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 7760340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 468
(L468I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065634]
[ENSMUST00000120522]
|
AlphaFold |
Q91WJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065634
AA Change: L469I
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000064809 Gene: ENSMUSG00000053303 AA Change: L469I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
96 |
528 |
1.1e-23 |
PFAM |
Pfam:MFS_1
|
124 |
370 |
7.8e-17 |
PFAM |
Pfam:MFS_1
|
350 |
547 |
2.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120522
AA Change: L468I
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113607 Gene: ENSMUSG00000053303 AA Change: L468I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
low complexity region
|
53 |
64 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
94 |
527 |
4.9e-23 |
PFAM |
Pfam:MFS_1
|
124 |
358 |
1.2e-15 |
PFAM |
Pfam:MFS_1
|
349 |
547 |
2.4e-12 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
Other mutations in Slc22a26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Slc22a26
|
APN |
19 |
7,760,201 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00736:Slc22a26
|
APN |
19 |
7,767,527 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01085:Slc22a26
|
APN |
19 |
7,767,464 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01581:Slc22a26
|
APN |
19 |
7,779,549 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02502:Slc22a26
|
APN |
19 |
7,768,125 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02658:Slc22a26
|
APN |
19 |
7,765,613 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02936:Slc22a26
|
APN |
19 |
7,768,470 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03162:Slc22a26
|
APN |
19 |
7,779,466 (GRCm39) |
missense |
probably benign |
0.00 |
R0034:Slc22a26
|
UTSW |
19 |
7,779,618 (GRCm39) |
missense |
probably benign |
0.03 |
R0633:Slc22a26
|
UTSW |
19 |
7,765,575 (GRCm39) |
critical splice donor site |
probably null |
|
R0676:Slc22a26
|
UTSW |
19 |
7,773,509 (GRCm39) |
splice site |
probably benign |
|
R2156:Slc22a26
|
UTSW |
19 |
7,779,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R4043:Slc22a26
|
UTSW |
19 |
7,765,694 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4781:Slc22a26
|
UTSW |
19 |
7,767,500 (GRCm39) |
missense |
probably benign |
0.34 |
R4896:Slc22a26
|
UTSW |
19 |
7,768,419 (GRCm39) |
missense |
probably benign |
0.14 |
R4999:Slc22a26
|
UTSW |
19 |
7,779,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5125:Slc22a26
|
UTSW |
19 |
7,767,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5178:Slc22a26
|
UTSW |
19 |
7,767,540 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6161:Slc22a26
|
UTSW |
19 |
7,763,812 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6494:Slc22a26
|
UTSW |
19 |
7,779,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R6512:Slc22a26
|
UTSW |
19 |
7,779,865 (GRCm39) |
start gained |
probably benign |
|
R6724:Slc22a26
|
UTSW |
19 |
7,779,726 (GRCm39) |
missense |
probably benign |
0.14 |
R7323:Slc22a26
|
UTSW |
19 |
7,768,259 (GRCm39) |
missense |
probably damaging |
0.97 |
R7375:Slc22a26
|
UTSW |
19 |
7,760,509 (GRCm39) |
splice site |
probably null |
|
R7558:Slc22a26
|
UTSW |
19 |
7,762,651 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7634:Slc22a26
|
UTSW |
19 |
7,779,952 (GRCm39) |
splice site |
probably null |
|
R8772:Slc22a26
|
UTSW |
19 |
7,767,477 (GRCm39) |
missense |
probably benign |
0.27 |
R8905:Slc22a26
|
UTSW |
19 |
7,760,331 (GRCm39) |
missense |
probably damaging |
0.97 |
R8937:Slc22a26
|
UTSW |
19 |
7,768,390 (GRCm39) |
splice site |
probably benign |
|
R9059:Slc22a26
|
UTSW |
19 |
7,762,559 (GRCm39) |
missense |
probably benign |
0.01 |
R9659:Slc22a26
|
UTSW |
19 |
7,763,798 (GRCm39) |
missense |
probably benign |
0.02 |
R9788:Slc22a26
|
UTSW |
19 |
7,763,798 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2012-04-20 |